A curated catalogue of human genomic structural variation




Variant Details

Variant: esv26187



Internal ID11043420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147314430..147316083hg38UCSC Ensembl
Innerchr7:147011522..147013175hg19UCSC Ensembl
Innerchr7:146642455..146644108hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381654
hg191654
hg181654
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv11428
SamplesNA12776, NA11993
Known GenesCNTNAP2, MIR548I4
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv26187
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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